Variant report

Variant	rs654730
Chromosome Location	chr6:143057427-143057428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs478624	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs513334	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs519740	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs538568	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs576420	0.87[ASN][1000 genomes]
rs578343	0.87[ASN][1000 genomes]
rs584733	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs597493	0.92[ASN][1000 genomes]
rs616447	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs618711	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs630537	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs639901	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs643298	0.92[ASN][1000 genomes]
rs647124	0.94[EUR][1000 genomes]
rs653458	0.88[EUR][1000 genomes]
rs657775	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143049800-143073200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:143050000-143058200	Weak transcription	NHEK	skin
3	chr6:143050000-143061600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:143050400-143058000	Weak transcription	Pancreas	Pancrea
5	chr6:143050600-143058600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:143050800-143058600	Weak transcription	NHDF-Ad	bronchial
7	chr6:143054200-143072800	Weak transcription	Primary T cells from cord blood	blood
8	chr6:143056800-143059000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:143057000-143059000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:143057000-143059000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:143057200-143058800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:143057400-143058400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:143057400-143058600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:143057400-143058800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:143057400-143058800	Weak transcription	Adipose Nuclei	Adipose
16	chr6:143057400-143058800	Weak transcription	Esophagus	oesophagus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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